$740.00

Whole Genome Sequence[WGS]

This is a Whole Genome NGS Specifically for Genealogy Researchers.

A new sample kit with 4 brushes is required (included in the price). All available raw data will be provided for download (free) or alternatively sent by mail on a micro SD card ($90 for the SD card and shipping fees will be added).

YSEQ extracts the DNA in-house and performs a quality assurance test which includes quantification and a YSEQ Alpha Y-STR profile (or HVR1 mtDNA for females) to make sure the correct sample is handled. After QC (quality control) we send the sample to our partner laboratory, for NG sequencing on their HiSeq X-Ten platform. After the raw FastQ files are returned, YSEQ will perform an in depth analysis of the dataset focusing on genealogy relevant topics. We'll annotate every named Y-chromosome SNP from Ybrowse to a VCF document with their ancestral and derived states. You'll receive separate files for your derived SNPs and for your novel SNP candidates and the InDel mutations. The novel SNPs will be qualified by an experienced scientist manually and up to 10 novel mutations can be verified with your sample by Sanger sequencing (optional Sanger confirmation package).

The analysis includes the complete mitochondrial DNA sequence with your mt haplogroup information. We also export the autosomal alleles in a 23andMe compatible format which can be used for many genealogy tools.

The YSEQ analysis does not contain any medical relevant information since the purpose is genealogy. But of course health related information is contained in the raw data and can be extracted from a third-party expert. When ordering this test, you'll need to sign a written consent form stating that you understand the medical implications and the risks associated with decoding this information. You'll need to indemnify YSEQ from any responsibility associated with health information encoded in your raw data. A 15x coverage is not sufficient for extracting reliable health information from the raw data files!

This is usually more than sufficient for the given coverage on autosomes and half of this on the Y chromosome. However bacerial contamination in your sample may reduce this coverage. Therefore we urgently ask you to provide a fresh high quality sample exactly according to the instructions. We will measure the bacterial contamination upfront in your extracted DNA and we will notify you if the bacterial contamination is higher than usual and you will be able to provide a replacement sample or risk a run with lower coverage on the human reference sequence.